Assessing the impact of genetic variation on transcriptional regulation in vitro

Methods in Molecular Biology

Volumn 628, Issue , 2010, Pages 195-214

  Ali, Fahad R ^a   Haddley, Kate ^a   Quinn, John P ^a  

^a NONE

Author keywords

Behaviour; Gene regulation; Polymorphism; VNTR

Indexed keywords

ANIMAL; ARTICLE; BRAIN CORTEX; CELL CULTURE; CYTOLOGY; GENE EXPRESSION REGULATION; METABOLISM; RAT; VARIABLE NUMBER OF TANDEM REPEAT; WISTAR RAT;

ANIMALS; CELLS, CULTURED; CEREBRAL CORTEX; GENE EXPRESSION REGULATION; MINISATELLITE REPEATS; RATS; RATS, WISTAR;

EID: 77952578324     PISSN: 10643745     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-60327-367-1_11     Document Type: Article

References (24)

1. Yan, H., Yuan, W., Velculescu, V.E., Vogelstein, B. and Kinzler, K.W. (2002) Allelic variation in human gene expression. Science 297, 1143.
2. Bray, N.J., Buckland, P.R., Owen, M.J. and O'Donovan, M.C. (2003) Cis-acting variation in the expression of a high proportion of genes in human brain. Hum Genet 113, 149-53.
3. Lo, H.S., Wang, Z., Hu, Y., Yang, H.H., Gere, S., Buetow, K.H. and Lee, M.P. (2003) Allelic variation in gene expression is common in the human genome. Genome Res 13, 1855-62.
4. Heils, A., Teufel, A., Petri, S., Stober, G., Riederer, P., Bengel, D. and Lesch, K.P. (1996) Allelic variation of human serotonin transporter gene expression. J Neurochem 66, 2621-4.
5. Klenova, E., Scott, A.C., Roberts, J., Shamsuddin, S., Lovejoy, E.A., Bergmann, S., Bubb, V.J., Royer, H.D. and Quinn, J.P. (2004) YB-1 and CTCF differentially regulate the 5-HTT polymorphic intron 2 enhancer which predisposes to a variety of neurological disorders. J Neurosci 24, 5966-73.
6. Roberts, J.C., Scott, A.M., Howard, M.R., Breen, G., Bubb, V.J., Klenova, E., and Quinn, J.P. (2007) Differential regulation of the serotonin transporter gene by lithium is mediated by transcription factors, CCTC binding protein and Y-Box binding protein 1, through the polymorphic intron 2 variable number tandem repeat. J Neurosci 27, 2793-2801.
7. King, M.C. and Wilson, A.C. (1975) Evolution at two levels in humans and chimpanzees. Science 188, 107-16.
8. Brookes, A.J. and Prince, J.A. (2005) Genetic association analysis: lessons from the study of Alzheimers disease. Mutat Res 573, 152-9.
9. Liu, W., Gu, N., Feng, G., Li, S., Bai, S., Zhang, J., Shen, T., Xue, H., Breen, G., St Clair, D. and He, L. (1999) Tentative association of the serotonin transporter with schizophrenia and unipolar depression but not with bipolar disorder in Han Chinese. Pharmacogenetics 9, 491-5.
10. Bray, N.J., Buckland, P.R., Williams, N.M., Williams, H.J., Norton, N., Owen, M.J. and O'Donovan, M.C. (2003). A haplotype implicated in schizophrenia susceptibility is associated with reduced COMT expression in human brain. Am J Hum Genet 73, 152-61.
11. Evans, J., Battersby, S., Ogilvie, A.D., Smith, C.A., Harmar, A.J., Nutt, D.J. and Goodwin, G.M. (1997) Association of short alleles of a VNTR of the serotonin transporter gene with anxiety symptoms in patients presenting after deliberate self harm. Neuropharmacology 36, 439-43.
12. Baca-Garcia, E., Vaquero-Lorenzo, C., Diaz-Hernandez, M., Rodriguez-Salgado, B., Dolengevich-Segal, H., Arrojo-Romero, M., Botillo-Martin, C., Ceverino, A., et al. (2006) Association between obsessive-compulsive disorder and a variable number of tandem repeats polymorphism in intron 2 of the serotonin transporter gene. Prog Neuropsychopharmacol Biol Psychiatry 31, 416-20.
13. Ogilvie, A.D., Battersby, S., Bubb, V.J., Fink, G., Harmar, A.J., Goodwim, G.M. and Smith, C.A. (1996) Polymorphism in serotonin transporter gene associated with susceptibility to major depression. Lancet 347, 731-3.
14. Battersby, S., Ogilvie, A.D., Smith, C.A., Blackwood, D.H., Muir, W.J., Quinn, J.P., Fink, G., Goodwin, G.M. and Harmar, A.J. (1996) Structure of a variable number tandem repeat of the serotonin transporter gene and association with affective disorder. Psychiatr Genet 6, 177-81.
15. Collier, D.A., Arranz, M.J., Sham, P., Battersby, S., Vallada, H., Gill, P., Aitchison, K.J., Sodhi, M., et al. (1996) The serotonin transporter is a potential susceptibility factor for bipolar affective disorder. Neuroreport 7, 1675-9.
16. Bellivier, F., Leroux, M., Henry, C., Rayah, F., Rouillon, F., Laplanche, J.L. and Leboyer, M. (2002) Serotonin transporter gene polymorphism infuences age at onset in patients with bipolar affective disorder. Neurosci Lett 334, 17-20.
17. Skipper, L., Liu, J.J. and Tan, E.K. (2006) Polymorphisms in candidate genes: implications for the current treatment of Parkinson's disease. Expert Opin Pharmacother 7, 849-55.
18. Haddley, K., Vasiliou, A.S., Ali, F.R., Paredes, U.M., Bubb, V.J. and Quinn, J.P. (2008) Molecular genetics of monoamine transporters: relevance to brain disorders. Neurochem Res 33, 652-67.
19. Jeffreys, A.J., Wilson, V. and Thein, S.L. (1985) Hypervariable 'minisatellite' regions in human DNA. Nature 314, 67-73.
20. Lesch, K.P., Meyer, J., Glatz, K., Flugge, G., Hinney, A., Hebebrand, J., Klauck, S.M., Poustka, A., et al. (1997) The 5-HT transporter gene-linked polymorphic region (5-HTTLPR) in evolutionary perspective: alternative biallelic variation in rhesus monkeys. Rapid communication. J Neural Transm 104, 1259-66.
21. Soeby, K., Larsen, S.A., Olsen, L., Rasmussen, H.B. & Werge, T. (2005) Serotonin transporter: evolution and impact of polymorphic transcriptional regulation. Am J Med Genet B Neuropsychiatr Genet 136, 53-7.
22. Fiskerstrand, C.E., Lovejoy, E.A. and Quinn, J.P. (1999) An intronic polymorphic domain often associated with susceptibility to affective disorders has allele dependent differential enhancer activity in embryonic stem cells. FEBS Lett 458, 171-4.
23. MacKenzie, A. and Quinn, J. A. (1999) Serotonin transporter gene intron 2 polymorphic region, correlated with affective disorders, has allele-dependent differential enhancer-like properties in the mouse embryo. Proc Natl Acad Sci USA 96, 15251-5.
24. Lovejoy, E.A., Scott, A.C., Fiskerstrand, C.E., Bubb, V.J. and Quinn, J.P. (2003) The serotonin transporter intronic VNTR enhancer correlated with a predisposition to affective disorders has distinct regulatory elements within the domain based on the primary DNA sequence of the repeat unit. Eur J Neurosci 17, 417-20.